Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | leukoencephalopathy with vanishing white matter 3 | | ISO | EIF2B3 (Homo sapiens) | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | leukoencephalopathy with vanishing white matter 3 | | ISO | EIF2B3 (Homo sapiens) | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | The mechanism of eukaryotic translation initiation: new insights and challenges. | Hinnebusch AG and Lorsch JR, Cold Spring Harb Perspect Biol. 2012 Oct 1;4(10). pii: a011544. doi: 10.1101/cshperspect.a011544. |
2. | Functional annotation of a full-length mouse cDNA collection. | Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90. |
3. | MGDs mouse GO annotations | MGD data from the GO Consortium |
4. | Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. | Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73. |
5. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
6. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
7. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
8. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:8889548 | PMID:10349636 | PMID:10922068 | PMID:11042159 | PMID:11076861 | PMID:11752298 | PMID:12226475 | PMID:12477932 | PMID:12520002 | PMID:12904583 | PMID:14610273 | PMID:15782199 |
PMID:16141072 | PMID:16141073 | PMID:16602821 | PMID:17967808 | PMID:18799693 | PMID:21267068 | PMID:21873635 | PMID:24194600 | PMID:27626380 |
Eif2b3 (Mus musculus - house mouse) |
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EIF2B3 (Homo sapiens - human) |
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Eif2b3 (Rattus norvegicus - Norway rat) |
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Eif2b3 (Chinchilla lanigera - long-tailed chinchilla) |
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EIF2B3 (Pan paniscus - bonobo/pygmy chimpanzee) |
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EIF2B3 (Canis lupus familiaris - dog) |
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Eif2b3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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EIF2B3 (Sus scrofa - pig) |
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EIF2B3 (Chlorocebus sabaeus - green monkey) |
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Eif2b3 (Heterocephalus glaber - naked mole-rat) |
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Variants in Eif2b3
1833 total Variants |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
RefSeq Transcripts | NM_001111277 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001355225 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_175135 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006502649 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AK004460 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK047344 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK145856 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK165157 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK165336 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK172173 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK172302 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK202868 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL671866 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL831772 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC115657 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC115658 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BE952243 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BM945817 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BQ176818 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BQ828648 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BY277686 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH466552 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DV041891 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSMUST00000070610 ⟹ ENSMUSP00000070334 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000106447 ⟹ ENSMUSP00000102055 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000106448 ⟹ ENSMUSP00000102056 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000129587 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000135121 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000151760 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000155181 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001111277 ⟹ NP_001104747 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001355225 ⟹ NP_001342154 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_175135 ⟹ NP_780344 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006502649 ⟹ XP_006502712 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001104747 | (Get FASTA) | NCBI Sequence Viewer |
NP_001342154 | (Get FASTA) | NCBI Sequence Viewer | |
NP_780344 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006502712 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAI15658 | (Get FASTA) | NCBI Sequence Viewer |
AAI15659 | (Get FASTA) | NCBI Sequence Viewer | |
BAE26701 | (Get FASTA) | NCBI Sequence Viewer | |
BAE42936 | (Get FASTA) | NCBI Sequence Viewer | |
EDL30573 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSMUSP00000070334.6 | ||
ENSMUSP00000102055 | |||
ENSMUSP00000102055.3 | |||
ENSMUSP00000102056 | |||
ENSMUSP00000102056.3 |
RefSeq Acc Id: | NP_780344 ⟸ NM_175135 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q3UKV0 (UniProtKB/TrEMBL), B1AUN3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001104747 ⟸ NM_001111277 |
- Peptide Label: | isoform 1 |
- UniProtKB: | B1AUN2 (UniProtKB/TrEMBL), B1AUN3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006502712 ⟸ XM_006502649 |
- Peptide Label: | isoform X1 |
- UniProtKB: | B1AUN3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001342154 ⟸ NM_001355225 |
- Peptide Label: | isoform 3 |
RefSeq Acc Id: | ENSMUSP00000070334 ⟸ ENSMUST00000070610 |
RefSeq Acc Id: | ENSMUSP00000102055 ⟸ ENSMUST00000106447 |
RefSeq Acc Id: | ENSMUSP00000102056 ⟸ ENSMUST00000106448 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-B1AUN2-F1-model_v2 | AlphaFold | B1AUN2 | 1-452 | view protein structure |
RGD ID: | 6835185 | ||||||||
Promoter ID: | MM_KWN:39208 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | 3T3L1_Day0, 3T3L1_Day1, 3T3L1_Day2, 3T3L1_Day3, 3T3L1_Day4, BoneMarrow_0Hour, BoneMarrow_2Hour, BoneMarrow_4Hour, Brain, ES_Cell, Kidney, Liver, Lung, MEF_B4, MEF_B6, Spleen | ||||||||
Transcripts: | ENSMUST00000094862, NM_175135, OTTMUST00000022643, UC008UHV.1 | ||||||||
Position: |
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RGD ID: | 6835187 | ||||||||
Promoter ID: | MM_KWN:39210 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Kidney, Liver | ||||||||
Transcripts: | UC008UHW.1 | ||||||||
Position: |
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RGD ID: | 6884346 | ||||||||
Promoter ID: | EPDNEW_M5624 | ||||||||
Type: | initiation region | ||||||||
Name: | Eif2b3_1 | ||||||||
Description: | Mus musculus eukaryotic translation initiation factor 2B, subunit3 , transcript variant 1, mRNA. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | MGI:1313286 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000028683 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Transcript | ENSMUST00000070610.6 | UniProtKB/TrEMBL |
ENSMUST00000106447 | ENTREZGENE | |
ENSMUST00000106447.9 | UniProtKB/TrEMBL | |
ENSMUST00000106448 | ENTREZGENE | |
ENSMUST00000106448.9 | UniProtKB/TrEMBL | |
Gene3D-CATH | Hexapeptide repeat proteins | UniProtKB/TrEMBL |
InterPro | NTP_transferase | UniProtKB/TrEMBL |
Nucleotide-diphossugar_trans | UniProtKB/TrEMBL | |
Trimer_LpxA-like | UniProtKB/TrEMBL | |
KEGG Report | mmu:108067 | UniProtKB/TrEMBL |
MGD | MGI:1313286 | ENTREZGENE |
NCBI Gene | 108067 | ENTREZGENE |
PANTHER | TRANSLATION INITIATION FACTOR EIF-2B SUBUNIT GAMMA | UniProtKB/TrEMBL |
TRANSLATION INITIATION FACTOR EIF-2B SUBUNIT GAMMA | UniProtKB/TrEMBL | |
Pfam | NTP_transferase | UniProtKB/TrEMBL |
PhenoGen | Eif2b3 | PhenoGen |
Superfamily-SCOP | SSF53448 | UniProtKB/TrEMBL |
Trimer_LpxA_like | UniProtKB/TrEMBL | |
UniProt | A0AUM9_MOUSE | UniProtKB/TrEMBL |
A4FUS0_MOUSE | UniProtKB/TrEMBL | |
B1AUN2 | ENTREZGENE, UniProtKB/TrEMBL | |
B1AUN3 | ENTREZGENE, UniProtKB/TrEMBL | |
Q3T9T4_MOUSE | UniProtKB/TrEMBL | |
Q3UKV0 | ENTREZGENE, UniProtKB/TrEMBL |